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Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation

Russ, Kaspar LU ; Marote, Ana LU ; Savchenko, Ekaterina LU ; Collin, Anna LU ; Goldwurm, Stefano; Pomeshchik, Yuriy LU and Roybon, Laurent LU (2018) In Stem Cell Research 27. p.61-64
Abstract

Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Stem Cell Research
volume
27
pages
4 pages
publisher
Elsevier
external identifiers
  • scopus:85040218467
ISSN
1873-5061
DOI
10.1016/j.scr.2018.01.001
language
English
LU publication?
yes
id
10cc33c8-2da7-4426-bf04-4671ea399422
date added to LUP
2018-01-17 09:08:06
date last changed
2018-05-29 11:20:30
@article{10cc33c8-2da7-4426-bf04-4671ea399422,
  abstract     = {<p>Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed. The CSC-40 cell line showed normal karyotyping and fingerprinting following transduction as well as sustained expression of several pluripotency markers and the ability to differentiate into all three germ layers.</p>},
  author       = {Russ, Kaspar and Marote, Ana and Savchenko, Ekaterina and Collin, Anna and Goldwurm, Stefano and Pomeshchik, Yuriy and Roybon, Laurent},
  issn         = {1873-5061},
  language     = {eng},
  month        = {03},
  pages        = {61--64},
  publisher    = {Elsevier},
  series       = {Stem Cell Research},
  title        = {Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation},
  url          = {http://dx.doi.org/10.1016/j.scr.2018.01.001},
  volume       = {27},
  year         = {2018},
}